Mutagenetix > Incidental Mutation

Incidental Mutation 'F5770:Atp6v1h'

177953

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1h

Ensembl Gene

ENSMUSG00000033793

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit H

Synonyms

0710001F19Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

F5770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5153201-5233438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5194666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 282 (T282A)

Ref Sequence

ENSEMBL: ENSMUSP00000141636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044369] [ENSMUST00000192698] [ENSMUST00000192847]

AlphaFold

Q8BVE3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044369
AA Change: T282A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040756
Gene: ENSMUSG00000033793
AA Change: T282A

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_H_N	17	342	3e-106	PFAM
Pfam:V-ATPase_H_C	348	464	1.9e-49	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192698
AA Change: T264A

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141797
Gene: ENSMUSG00000033793
AA Change: T264A

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_H_N	17	324	4.4e-104	PFAM
Pfam:V-ATPase_H_C	329	447	1.7e-48	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192847
AA Change: T282A

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141636
Gene: ENSMUSG00000033793
AA Change: T282A

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_H_N	17	342	1e-102	PFAM
Pfam:V-ATPase_H_C	332	423	2.7e-25	PFAM
Pfam:Arm_2	339	427	4.6e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194301

Meta Mutation Damage Score

0.3458

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (96/97)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for the allele exhbit bone loss with altered bone absorption and decreased bone formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,595,050 (GRCm39)	H102L	possibly damaging	Het
Abcb5	T	A	12: 118,849,914 (GRCm39)	M950L	probably benign	Het
Ahcy	G	A	2: 154,906,841 (GRCm39)	R151*	probably null	Het
Arhgef38	T	G	3: 132,855,301 (GRCm39)	H262P	probably damaging	Het
Camk2g	T	C	14: 20,789,380 (GRCm39)		probably benign	Het
Casp8ap2	C	T	4: 32,639,944 (GRCm39)	H333Y	probably benign	Het
Cd36	ACTGTCTGT	ACTGT	5: 18,025,526 (GRCm39)		probably null	Het
Cdc42bpb	C	T	12: 111,262,825 (GRCm39)	G1501S	probably benign	Het
Cfi	T	A	3: 129,648,641 (GRCm39)	I175K	possibly damaging	Het
Clasp1	G	A	1: 118,509,078 (GRCm39)	R1027Q	probably damaging	Het
D630003M21Rik	T	C	2: 158,042,931 (GRCm39)	T870A	probably benign	Het
Dcaf4	C	A	12: 83,584,475 (GRCm39)		probably null	Het
Dnah12	T	A	14: 26,495,050 (GRCm39)	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 98,999,363 (GRCm39)	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,690,775 (GRCm39)	Q295*	probably null	Het
Dync2i1	A	C	12: 116,175,460 (GRCm39)	S906A	possibly damaging	Het
Erv3	T	C	2: 131,697,846 (GRCm39)	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865 (GRCm39)	T249A	probably benign	Het
Fbrsl1	C	T	5: 110,527,292 (GRCm39)	A129T	possibly damaging	Het
Fcgr1	T	C	3: 96,191,592 (GRCm39)	*405W	probably null	Het
Gdap1l1	C	T	2: 163,289,406 (GRCm39)		probably benign	Het
Glrx3	A	G	7: 137,060,882 (GRCm39)	H172R	probably benign	Het
Gm10770	T	A	2: 150,021,404 (GRCm39)	K38*	probably null	Het
Gm20517	G	A	17: 47,929,757 (GRCm39)	V65M	probably damaging	Het
Gm4787	G	A	12: 81,424,341 (GRCm39)	Q606*	probably null	Het
Golga4	A	G	9: 118,385,143 (GRCm39)	E727G	possibly damaging	Het
Got1	T	A	19: 43,489,000 (GRCm39)		probably benign	Het
Heatr5a	A	G	12: 51,928,061 (GRCm39)		probably benign	Het
Hira	G	A	16: 18,713,571 (GRCm39)	A29T	probably damaging	Het
Hnrnpab	A	T	11: 51,493,451 (GRCm39)	N252K	probably benign	Het
Ing1	T	C	8: 11,611,934 (GRCm39)	V124A	probably damaging	Het
Izumo4	A	T	10: 80,539,725 (GRCm39)	T155S	probably benign	Het
Kcnb2	A	G	1: 15,780,315 (GRCm39)	I396V	probably benign	Het
Klc1	A	T	12: 111,741,006 (GRCm39)	I161F	probably benign	Het
Lpar5	C	A	6: 125,058,690 (GRCm39)	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,318,863 (GRCm39)	S900L	possibly damaging	Het
Lrrc37a	T	G	11: 103,346,338 (GRCm39)	N3176T	possibly damaging	Het
Mbd5	A	G	2: 49,206,422 (GRCm39)	D1713G	probably damaging	Het
Mctp2	T	A	7: 71,771,499 (GRCm39)		probably benign	Het
Muc6	T	G	7: 141,233,880 (GRCm39)	E808A	probably benign	Het
Mylk	G	T	16: 34,815,574 (GRCm39)		probably null	Het
Myrfl	T	C	10: 116,697,435 (GRCm39)	T30A	probably damaging	Het
Nbeal2	A	G	9: 110,467,005 (GRCm39)	V670A	possibly damaging	Het
Nphp3	T	C	9: 103,913,093 (GRCm39)		probably null	Het
Numbl	T	C	7: 26,979,027 (GRCm39)	S379P	probably benign	Het
Or10j7	G	T	1: 173,011,531 (GRCm39)	L157I	probably benign	Het
Or5an6	G	A	19: 12,371,914 (GRCm39)	V96I	probably benign	Het
Or5p57	G	T	7: 107,665,885 (GRCm39)	T40K	probably benign	Het
Otop3	T	A	11: 115,235,664 (GRCm39)	L432Q	probably damaging	Het
Papln	C	T	12: 83,825,608 (GRCm39)	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,288,976 (GRCm39)	T257S	probably damaging	Het
Pigx	T	C	16: 31,906,240 (GRCm39)	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,741,776 (GRCm39)	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,303,825 (GRCm39)	T112A	probably benign	Het
Ppwd1	A	G	13: 104,356,745 (GRCm39)	Y257H	probably damaging	Het
Prkcb	G	T	7: 122,127,699 (GRCm39)	W274C	probably damaging	Het
Rabep1	T	C	11: 70,828,342 (GRCm39)		probably benign	Het
Ralgapa1	G	A	12: 55,842,438 (GRCm39)		probably benign	Het
Rasa1	A	G	13: 85,375,064 (GRCm39)		probably null	Het
Rbbp8nl	T	A	2: 179,920,001 (GRCm39)	T558S	probably benign	Het
Recql4	T	C	15: 76,590,369 (GRCm39)	D705G	possibly damaging	Het
Ror1	A	G	4: 100,298,130 (GRCm39)	Q501R	probably damaging	Het
Rundc3b	TGCCGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGCCGC	5: 8,672,549 (GRCm39)		probably benign	Het
Sirpb1b	A	G	3: 15,568,243 (GRCm39)	V366A	probably benign	Het
Slc30a4	T	A	2: 122,531,458 (GRCm39)	M136L	probably benign	Het
Slc5a6	C	T	5: 31,199,957 (GRCm39)		probably null	Het
Spaca1	T	C	4: 34,039,311 (GRCm39)	E192G	probably damaging	Het
Spata31	C	A	13: 65,069,462 (GRCm39)	P537T	probably benign	Het
Sptbn2	C	T	19: 4,800,660 (GRCm39)	R2292C	probably damaging	Het
Thbd	A	T	2: 148,249,110 (GRCm39)	Y253N	probably benign	Het
Tiam1	C	T	16: 89,662,159 (GRCm39)	R653H	probably damaging	Het
Tmc3	T	C	7: 83,271,713 (GRCm39)	V955A	probably benign	Het
Tnrc6c	G	A	11: 117,614,152 (GRCm39)	R770H	probably damaging	Het
Toe1	A	T	4: 116,663,308 (GRCm39)	N56K	probably damaging	Het
Tprkb	A	G	6: 85,905,764 (GRCm39)	K150E	probably damaging	Het
Trps1	T	C	15: 50,694,973 (GRCm39)	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,066,980 (GRCm39)	V86A	probably benign	Het
Ttc23	T	C	7: 67,359,063 (GRCm39)		probably benign	Het
Ttc36	A	T	9: 44,713,094 (GRCm39)		probably benign	Het
Tubb3	C	T	8: 124,138,414 (GRCm39)		probably benign	Het
Vmn2r68	C	T	7: 84,871,088 (GRCm39)	V732I	probably benign	Het
Vps18	A	G	2: 119,127,709 (GRCm39)	Y844C	probably benign	Het
Wdr72	T	A	9: 74,064,552 (GRCm39)	I528N	probably damaging	Het
Zfp292	C	T	4: 34,806,783 (GRCm39)	C2087Y	possibly damaging	Het
Zfp606	T	G	7: 12,215,123 (GRCm39)		probably benign	Het
Zfp933	G	A	4: 147,910,927 (GRCm39)	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,654,314 (GRCm39)	R724*	probably null	Het

Other mutations in Atp6v1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Atp6v1h	APN	1	5,194,694 (GRCm39)	critical splice donor site	probably null
IGL00984:Atp6v1h	APN	1	5,165,905 (GRCm39)	missense	probably damaging	1.00
IGL01545:Atp6v1h	APN	1	5,159,282 (GRCm39)	missense	probably benign
IGL01788:Atp6v1h	APN	1	5,220,206 (GRCm39)	missense	possibly damaging	0.81
IGL02317:Atp6v1h	APN	1	5,154,693 (GRCm39)	missense	possibly damaging	0.95
IGL02679:Atp6v1h	APN	1	5,194,525 (GRCm39)	missense	probably damaging	1.00
IGL02944:Atp6v1h	APN	1	5,163,578 (GRCm39)	splice site	probably benign
IGL03119:Atp6v1h	APN	1	5,165,892 (GRCm39)	missense	probably benign	0.34
R0055:Atp6v1h	UTSW	1	5,154,677 (GRCm39)	missense	probably benign	0.01
R0055:Atp6v1h	UTSW	1	5,154,677 (GRCm39)	missense	probably benign	0.01
R0727:Atp6v1h	UTSW	1	5,154,781 (GRCm39)	nonsense	probably null
R1452:Atp6v1h	UTSW	1	5,168,360 (GRCm39)	unclassified	probably benign
R1465:Atp6v1h	UTSW	1	5,165,911 (GRCm39)	missense	probably damaging	1.00
R1465:Atp6v1h	UTSW	1	5,165,911 (GRCm39)	missense	probably damaging	1.00
R2273:Atp6v1h	UTSW	1	5,187,699 (GRCm39)	missense	probably damaging	1.00
R4512:Atp6v1h	UTSW	1	5,168,358 (GRCm39)	critical splice donor site	probably null
R4687:Atp6v1h	UTSW	1	5,203,308 (GRCm39)	missense	probably damaging	1.00
R5185:Atp6v1h	UTSW	1	5,165,865 (GRCm39)	missense	probably damaging	1.00
R5628:Atp6v1h	UTSW	1	5,206,112 (GRCm39)	nonsense	probably null
R5843:Atp6v1h	UTSW	1	5,232,312 (GRCm39)	splice site	probably null
R7037:Atp6v1h	UTSW	1	5,220,215 (GRCm39)	missense	possibly damaging	0.77
R7505:Atp6v1h	UTSW	1	5,194,561 (GRCm39)	missense	probably benign
R9098:Atp6v1h	UTSW	1	5,163,638 (GRCm39)	missense	probably damaging	1.00
R9291:Atp6v1h	UTSW	1	5,220,284 (GRCm39)	missense	probably null	0.40
R9348:Atp6v1h	UTSW	1	5,187,699 (GRCm39)	missense	probably damaging	1.00
V7580:Atp6v1h	UTSW	1	5,194,666 (GRCm39)	missense	possibly damaging	0.94
V7581:Atp6v1h	UTSW	1	5,194,666 (GRCm39)	missense	possibly damaging	0.94
V7582:Atp6v1h	UTSW	1	5,194,666 (GRCm39)	missense	possibly damaging	0.94
V7583:Atp6v1h	UTSW	1	5,194,666 (GRCm39)	missense	possibly damaging	0.94
Z1088:Atp6v1h	UTSW	1	5,168,271 (GRCm39)	missense	probably damaging	1.00
Z1176:Atp6v1h	UTSW	1	5,165,851 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-05-07